Two novel factor X gene mutations in a Chinese family with factor X deficiency


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Abstract

We report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (<0.01 IU/ml) and FX:Ag (5–6%) levels and were heterozygous for two novel F10 mutations, a 2-bp GC deletion involving nucleotides 33 and 34, leading to premature chain termination at residue 45, and a T237→C mutation, leading to Phe71→Ser. A family study confirmed that the mother had the 2-bp GC deletion and a type I FX deficiency. The father had the Phe71→Ser mutation. Interestingly, a type I FX deficiency was also observed, suggesting that Phe71→Ser, occurring at a site sandwiched between two Gla residues, might perturb FX protein stability.

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